Association between Cytotoxic T-Lymphocyte-Associated Antigen 4 (CTLA-4) Locus and Early-Onset Anti-acetylcholine Receptor-Positive Myasthenia Gravis in Serbian Patients
Само за регистроване кориснике
2024
Аутори
Đorđević, IvanaGarai, Nemanja
Perić, Stojan
Karanović, Jelena
Pešović, Jovan
Brkusanin, Milos
Lavrnic, Dragana
Apostolski, Slobodan
Savić-Pavicević, Dusanka
Basta, Ivana
Чланак у часопису (Објављена верзија)
Метаподаци
Приказ свих података о документуАпстракт
Genome-wide association studies (GWAS) have provided strong evidence that early- and late-onset MG have different genetic backgrounds. Recent in silico analysis based on GWAS results revealed rs231735 and rs231770 variants within CTLA-4 locus as possible MG causative genetic factors. We aimed to explore the association of rs231735 and rs231770 with MG in a representative cohort of Serbian patients. We conducted an age-, sex-, and ethnicity-matched case–control study. Using TaqMan allele discrimination assays, the frequency of rs231735 and rs231770 genetic variants was examined in 447 AChR-MG patients and 447 matched controls. There was no significant association of rs231735 and rs231770 with the entire MG cohort (P > 0.05). Nevertheless, when stratifying patients into early-onset (n = 183) and late-onset MG (n = 264), we found early-onset patients had a significantly lower frequency of the rs231735 allele T compared to controls (OR = 0.734, 95% CI = 0.575–0.938, p10e6 permutation < 0.0...5), and rs231735 genotype TT and rs231770 genotype TT had a protective effect on early-onset MG (OR = 0.548, 95% CI = 0.339–0.888, and OR = 0.563, 95% CI = 0.314–1.011, p10e6 permutation < 0.05). Consequently, we found that individuals with the rs231735-rs231770 haplotype GC had a higher risk for developing early-onset MG (OR = 1.360, P = 0.027, p10e6 permutation < 0.05). Our results suggest that CTLA-4 rs231735 and rs231770 may be risk factors only for patients with early-onset MG in Serbian population.
Кључне речи:
Autoimmune disease / CD152 / CTLA-4 / Myasthenia gravis / Single-nucleotide polymorphismИзвор:
Molecular Neurobiology, 2024Издавач:
- Springer
Колекције
Институција/група
Institut za molekularnu genetiku i genetičko inženjerstvoTY - JOUR AU - Đorđević, Ivana AU - Garai, Nemanja AU - Perić, Stojan AU - Karanović, Jelena AU - Pešović, Jovan AU - Brkusanin, Milos AU - Lavrnic, Dragana AU - Apostolski, Slobodan AU - Savić-Pavicević, Dusanka AU - Basta, Ivana PY - 2024 UR - https://doi.org/10.1007/s12035-024-04183-8 UR - https://imagine.imgge.bg.ac.rs/handle/123456789/2346 AB - Genome-wide association studies (GWAS) have provided strong evidence that early- and late-onset MG have different genetic backgrounds. Recent in silico analysis based on GWAS results revealed rs231735 and rs231770 variants within CTLA-4 locus as possible MG causative genetic factors. We aimed to explore the association of rs231735 and rs231770 with MG in a representative cohort of Serbian patients. We conducted an age-, sex-, and ethnicity-matched case–control study. Using TaqMan allele discrimination assays, the frequency of rs231735 and rs231770 genetic variants was examined in 447 AChR-MG patients and 447 matched controls. There was no significant association of rs231735 and rs231770 with the entire MG cohort (P > 0.05). Nevertheless, when stratifying patients into early-onset (n = 183) and late-onset MG (n = 264), we found early-onset patients had a significantly lower frequency of the rs231735 allele T compared to controls (OR = 0.734, 95% CI = 0.575–0.938, p10e6 permutation < 0.05), and rs231735 genotype TT and rs231770 genotype TT had a protective effect on early-onset MG (OR = 0.548, 95% CI = 0.339–0.888, and OR = 0.563, 95% CI = 0.314–1.011, p10e6 permutation < 0.05). Consequently, we found that individuals with the rs231735-rs231770 haplotype GC had a higher risk for developing early-onset MG (OR = 1.360, P = 0.027, p10e6 permutation < 0.05). Our results suggest that CTLA-4 rs231735 and rs231770 may be risk factors only for patients with early-onset MG in Serbian population. PB - Springer T2 - Molecular Neurobiology T2 - Molecular NeurobiologyMol Neurobiol T1 - Association between Cytotoxic T-Lymphocyte-Associated Antigen 4 (CTLA-4) Locus and Early-Onset Anti-acetylcholine Receptor-Positive Myasthenia Gravis in Serbian Patients DO - 10.1007/s12035-024-04183-8 ER -
@article{ author = "Đorđević, Ivana and Garai, Nemanja and Perić, Stojan and Karanović, Jelena and Pešović, Jovan and Brkusanin, Milos and Lavrnic, Dragana and Apostolski, Slobodan and Savić-Pavicević, Dusanka and Basta, Ivana", year = "2024", abstract = "Genome-wide association studies (GWAS) have provided strong evidence that early- and late-onset MG have different genetic backgrounds. Recent in silico analysis based on GWAS results revealed rs231735 and rs231770 variants within CTLA-4 locus as possible MG causative genetic factors. We aimed to explore the association of rs231735 and rs231770 with MG in a representative cohort of Serbian patients. We conducted an age-, sex-, and ethnicity-matched case–control study. Using TaqMan allele discrimination assays, the frequency of rs231735 and rs231770 genetic variants was examined in 447 AChR-MG patients and 447 matched controls. There was no significant association of rs231735 and rs231770 with the entire MG cohort (P > 0.05). Nevertheless, when stratifying patients into early-onset (n = 183) and late-onset MG (n = 264), we found early-onset patients had a significantly lower frequency of the rs231735 allele T compared to controls (OR = 0.734, 95% CI = 0.575–0.938, p10e6 permutation < 0.05), and rs231735 genotype TT and rs231770 genotype TT had a protective effect on early-onset MG (OR = 0.548, 95% CI = 0.339–0.888, and OR = 0.563, 95% CI = 0.314–1.011, p10e6 permutation < 0.05). Consequently, we found that individuals with the rs231735-rs231770 haplotype GC had a higher risk for developing early-onset MG (OR = 1.360, P = 0.027, p10e6 permutation < 0.05). Our results suggest that CTLA-4 rs231735 and rs231770 may be risk factors only for patients with early-onset MG in Serbian population.", publisher = "Springer", journal = "Molecular Neurobiology, Molecular NeurobiologyMol Neurobiol", title = "Association between Cytotoxic T-Lymphocyte-Associated Antigen 4 (CTLA-4) Locus and Early-Onset Anti-acetylcholine Receptor-Positive Myasthenia Gravis in Serbian Patients", doi = "10.1007/s12035-024-04183-8" }
Đorđević, I., Garai, N., Perić, S., Karanović, J., Pešović, J., Brkusanin, M., Lavrnic, D., Apostolski, S., Savić-Pavicević, D.,& Basta, I.. (2024). Association between Cytotoxic T-Lymphocyte-Associated Antigen 4 (CTLA-4) Locus and Early-Onset Anti-acetylcholine Receptor-Positive Myasthenia Gravis in Serbian Patients. in Molecular Neurobiology Springer.. https://doi.org/10.1007/s12035-024-04183-8
Đorđević I, Garai N, Perić S, Karanović J, Pešović J, Brkusanin M, Lavrnic D, Apostolski S, Savić-Pavicević D, Basta I. Association between Cytotoxic T-Lymphocyte-Associated Antigen 4 (CTLA-4) Locus and Early-Onset Anti-acetylcholine Receptor-Positive Myasthenia Gravis in Serbian Patients. in Molecular Neurobiology. 2024;. doi:10.1007/s12035-024-04183-8 .
Đorđević, Ivana, Garai, Nemanja, Perić, Stojan, Karanović, Jelena, Pešović, Jovan, Brkusanin, Milos, Lavrnic, Dragana, Apostolski, Slobodan, Savić-Pavicević, Dusanka, Basta, Ivana, "Association between Cytotoxic T-Lymphocyte-Associated Antigen 4 (CTLA-4) Locus and Early-Onset Anti-acetylcholine Receptor-Positive Myasthenia Gravis in Serbian Patients" in Molecular Neurobiology (2024), https://doi.org/10.1007/s12035-024-04183-8 . .